ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.5639C>T (p.Thr1880Ile)

dbSNP: rs1555252070
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667624 SCV000792103 uncertain significance Charlevoix-Saguenay spastic ataxia 2017-06-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000667624 SCV002788003 uncertain significance Charlevoix-Saguenay spastic ataxia 2022-02-28 criteria provided, single submitter clinical testing

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